OBO ID: DOID:0110724
Term Name: neuronal ceroid lipofuscinosis 8 northern epilepsy variant Search Ontology:
Synonyms:
  • EPMR
  • northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant
  • progressive epilepsy with mental retardation, northern epilepsy
  • progressive epilepsy-intellectual disability syndrome, Finnish type
Definition: A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. (2)
References:
  • GARD:2163
  • GARD:4010
  • ICD10CM:E75.4
  • OMIM:610003
  • ORDO:1947
Ontology: Human Disease   (DOID:0110724)
OTHER neuronal ceroid lipofuscinosis 8 northern epilepsy variant PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLN8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None